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Cytogenetics > (F) Mendelian Disorders > Flashcards

(F) Mendelian Disorders Flashcards

1
Q

Mendelian Disorders

Which is not true:
A. Each person carries 5-8 deleterious genes
B. Mutation in single gene only with minimal effects
C. Majority of the disorders are familial
D. Other Mendelian disorders are de novo
E. NOTA

A

B (large effects)

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2
Q

MENDELIAN DISORDERS

Three patterns of transmittance:

A

Autosomal dominant
Autosomal recessive
X-linked

Almost all sex-linked are recessive

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3
Q

TOF. Penetrance is expressed in
mathematical terms.

A

T

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4
Q

TOF. 50% penetrance indicates that 100% of
those who carry the gene express the
trait.

A

F (both 50%)

1:1

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5
Q

TOF. If a trait is seen in all individuals carrying the mutant gene but is expressed differently among individuals, the phenomenon is called chosen expressivity.

A

F (variable expressivity)

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6
Q

Identify pattern

Origin: Do not affect parents, may manifest in sibling

A

AR

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7
Q

Identify pattern

Some are de novo in gametes

A

AD

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8
Q

Identify pattern

Clinical: Modified by variation in PENETRANCE and EXPRESSIVITY; M=F

A

AD

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9
Q

Which is not true about X-Linked
A. All daughters are carriers
B. Almost all are recessive
C. Expressed in MALES
D. It’s onset is depends on the disease
E. NOTA

A

E

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10
Q

X-Linked

Type of Protein

A

Enzyme or Structural proteins

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11
Q

AD

Type of Protein

A

Non-enzyme proteins;
membrane receptors and Structural proteins

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12
Q

AR

Type of Protein

A

Enzyme proteins

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13
Q

Identify pattern

More uniform expression, commonly with complete penetrance

A

AR

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14
Q

TOF. The age of onset in AD is delayed while AR is early.

A

T

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15
Q

AD, AR or X-linked

Deletion

A

All

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16
Q

AD, AR or X-linked

non-functional

A

AR

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17
Q

AD, AR or X-linked

missense mutation; LOF, GOF

A

AD

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18
Q

AD, AR or X-linked

insertions, non-sense mutations

A

X

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19
Q

AD, AR or X-linked

They only manifest when homozygous.

A

AR

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20
Q

TOF. In Autosomal Dominant disorders, only ONE ALLELE needs to have the mutation for the autosomal dominant disorder to manifest.

A

T

It only takes one allele.

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21
Q

AD, AR or X-linked

→ Duchene Muscular Dystrophy

A

X-Linked

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22
Q

AD, AR or X-linked

Hemophilia B

A

X

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23
Q

AD, AR or X-linked

Ehlers-Danlos

A

AD

They can be transmitted through AR fashion, or sex as a sex-linked disorder.

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24
Q

AD, AR or X-linked

Marfan syndrome

A

AD

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25
Q

AD, AR or X-linked

Lysosomal Storage Disease

A

AR

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26
Q

AD, AR or X-linked

Mucopolysaccharidosis

A

AR

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27
Q

AD, AR or X-linked

Familial Hypercholesterolemia

A

AD

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28
Q

AD, AR or X-linked

Cystic fibrosis

A

AR

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29
Q

AD, AR or X-linked

Hereditary Spherocytosis

A

AD

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30
Q

AD, AR or X-linked

Glycogenosis

A

AR

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31
Q

Marfan Syndrome

Except:
A. FBN2 on 5q23.31
B. FBNI on 15q21.1
C. fibrillin I protein
D. COL5A1
E. NOTA

A

D

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32
Q

Marfan Syndrome

The Fibrilin I protein crated from the FBNI gene provides skeleton on which trophoelastin
is deposited to form?

A

Elastic fibers

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33
Q

Marfan Syndrome

Appearance except:
A. Long extremities
B. Dolichocephaly
C. Prominent supraorbital ridges
D. Pectus excavatum
E. NOTA

A

E

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34
Q

Marfan Syndrome

Appearance except:
A. Spinal deformity
B. Pigeon-breast deformity
C. Bilateral subluxation
D. Single joints
E. NOTA

A

D (double joints)

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35
Q

Marfan Syndrome

What do you call when when the left the ventricle contracts, a portion of the blood goes back to the left atrium?

A

mitral valve prolapse

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36
Q

Marfan Syndrome

TOF. Aneurysm of ascending aorta can result to competence of the aortic valve.

A

F (incompetence)

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37
Q

MArfann Syndrome

The incompetence if the aortic valve is caused by?

A

aneurysm of the ascending aorta

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38
Q

Marfan Syndrome

Mitral valve prolapse creates a volume overload in what part of the heart?

A

Left ventricle

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39
Q

Marfan Syndrome

increase in the size of individual muscle fibers in the heart is a condition called?

A

hypertrophy

continuous process of overload, this can result to Heart Failure (HF)

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40
Q

Abraham Lincoln has a condition called?

A

Marfan Syndrome

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41
Q

Marfan Syndrome

Diagnosis, except:
A. Lens dislocation
B. Ectopia lentis
C. Echocardiography
D. Clinical
E. NOTA

A

E

42
Q

Ehlers-Danlos Syndrome

TOF. Group of clinically and genetically heterogenous disorders.

A

T

43
Q

Ehlers-Danlos Syndrome

Defect in synthesis of?

A

fibrillar collagen

44
Q

EDS

The defect in synthesis of firbrillar collagen is caused by what pattern of inheritance?

A

AD

45
Q

Ehlers-Danlos Syndrome

what gene is affected for classical EDS,
Type I and II

A

COL5A1 and COL5A2

46
Q

Ehlers-Danlos Syndrome

COL1A1 and COL1A2

A

arthrochalasia, type VIIa, b

47
Q

Syndrome

may be caused by mutations involving
structural proteins or enzymes

A

EDS

48
Q

Ehlers-Danlos Syndrome

Common manifestations, except:
A. hypermobility
B. dark skinned
C. hyperextensibility
D. NOTA

A

B

49
Q

Ehlers-Danlos Syndrome

ocular fragility can cause

A

corneal rupture and retinal detachment (Kyphoscoliosis variant)

49
Q

EDS Variant

the skin is fragile, it is prone to trauma and injury, particularly in patients with?

A

dermatosparaxis variant

49
Q

EDS Variant

Colon and arterial rupture are seen in individuals with?

A

vascular variant

50
Q

Ehlers-Danlos Syndrome

TOF. in classical variant, they can have the diaphragmatic hernia

A

T

51
Q

Ehlers-Danlos Syndrome

The diaphragm, which separates the thoracic
cavity from the abdominal cavity can become
weak and so we know that the esophagus
traverses the diaphragm before it comes to
stomach. That segment can be pulled up into the
thoracic cavity, which is called?

A

diaphragmatic hernia

52
Q

Ehlers-Danlos Syndrome

TOF. A portion of the stomach can GO UP into the thoracic cavity.

A

T

vewy flexible sya, kaya p’wede sila makita sa mga circus

53
Q

Most common lethal genetic diseases
affecting Caucasians

A

Mucoviscidosis or Cystic Fibrosis

54
Q

CYSTIC FIBROSIS

This regulates Cl channel, K channel, ENaC,
gap junction channel and cellular processes involved in ATP transport and mucous secretion.

A. Cystic fibrosis transmembrane conductance regulator gene
B. 7q31.2
C. Both

A

C

55
Q

CYSTIC FIBROSIS

Normally CFTR inhibits?

A

ENaC (epithelial sodium channel) in glands

56
Q

Mutation in the CFTR, will increase the uptake of?

A

sodium

from the lumen of the pulmonary and GI tract

57
Q

CYSTIC FIBROSIS

A person with this condition will have a defective ciliary action, the individual will have a hard time to remove the organism in a tracheobronchial tree. This can grow and cause?

A

infection

58
Q

Mendelian Disorder

presents with recurrent pulmonary
infection

A

mucoviscidosis or cystic fibrosis

59
Q

Mendelian Disorder

hypertonic (high Cl and Na) sweat “salty sweat”

A

Cystic Fibrosis

this is due to the ENaC having a decreased activity with CFTR mutatio

60
Q

Cystic Fibrosis

This is a mediated bicarbonate transport, with
mutation tissues that will secrete acidic fluid. Forming a mucin precipitation, plugging of ducts and increase the binding of bacteria to plugs.

A

CFTR

61
Q

Mucoviscidosis

Manifests before birth:

A

Meconium Ileus

62
Q

Cystic Fibrosis

The absence of that peristalsis that move the food in the GIT is called

A

Ileus

63
Q

Cystic Fibrosis

At what developmental stage are viscous secretions
and recurrent pulmonary infection is most serious?

A

Childhood/adolescence

64
Q

Cystic Fibrosis

Pancreatic insufficiency (80-90%) can cause?

A

steatorrhea, malnutrition

fat is not absorbed properly so these undigested fats are expelled together with stools which is called steatorrhea. This, eventually, can lead to malnutrition.

65
Q

Hereditary deficiency of one of the enzymes involved in glycogen synthesis or degradation

A

GLYCOGENOSIS

66
Q

GLYCOGENOSIS

3 subgroups

A

o Hepatic
o Myopathic
o Glycogen

67
Q

GLYCOGENOSIS

TOF. Enzymatic defects does not dictate the organ of involvement (distribution)

A

F

68
Q

GLYCONGENOSIS

This subgroup is a storage disease associated with deficiency of alpha-glucosidase or acid maltase and lack of debranching enzymes

A

Glycogen

69
Q

GLYCOGENOSIS

Muscle phosphofructokinase deficiency

A. MYOPATHIC FORMS
B. HEPATIC FORMS
C. Acid Maltase and Lack of Debranching Enzymes

A

A

Type VII

70
Q

Von Gierke/ Type I (Glucose 6 phosphatase
deficiency)

A. MYOPATHIC FORMS
B. HEPATIC FORMS
C. Acid Maltase and Lack of Debranching Enzymes

A

B

71
Q

McArdle Disease/type V (Muscle phosphorylase deficiency)

A. MYOPATHIC FORMS
B. HEPATIC FORMS
C. Acid Maltase and Lack of Debranching Enzymes

A

A

72
Q

Lysosomal storage of glycogen in all organs

A. MYOPATHIC FORMS
B. HEPATIC FORMS
C. Acid Maltase and Lack of Debranching Enzymes

A

C

73
Q

Acid Maltase and Lack of Debranching Enzymes

most prominent feature

A

Cardiomegaly

enlargement of the heart

74
Q

They present with enlargement of liver, hepatomegaly, and decreased glucose in blood, hypoglycemia.

A. MYOPATHIC FORMS
B. HEPATIC FORMS
C. Acid Maltase and Lack of Debranching Enzymes

A

B

75
Q

DUCHENE MUSCULAR DYSTROPHY

Except:

A. 2/3 de novo, 1/3 familial
B. Deletion
C. Xp21
D. NOTA

A

A (1/3 de novo and 2/3 familial)

76
Q

DUCHENE MUSCULAR DYSTROPHY

Forms an interface between intracellular contractile protein and extracellular matrix

A

Dystrophin

77
Q

DUCHENE MUSCULAR DYSTROPHY

TOF. Females are carriers, asymptomatic, increase in creatine kinase in the blood.

A

T

78
Q

DUCHENE MUSCULAR DYSTROPHY

TOF. Females manifest at 5 y.o, wheelchair dependent at 10-12

A

F (males)

79
Q

DUCHENE MUSCULAR DYSTROPHY

Male and female patients who survive until
adulthood are at risk of having dilated?

A

cardiomyopathy

80
Q

DUCHENE MUSCULAR DYSTROPHY

TOF. Normal at Birth.

A

T

81
Q

DUCHENE MUSCULAR DYSTROPHY

TOF. Delayed walking due to muscle weakness

A

T

Pelvic girdle muscles are the first to weaken

82
Q

DUCHENE MUSCULAR DYSTROPHY

Feature, except:
A. Increase fiber size
B. Pseudohypertrophy of leg muscles
C. Pulmonary failure
D. NOTA

A

D

83
Q

DUCHENE MUSCULAR DYSTROPHY

Disease that is closely associated

A

Becker Muscular Dystrophy

84
Q

Identify Disorder

Diminished Dystrophin; Mutation causes synthesis of abnormal, smaller protein

A

Becker Muscular Dystrophy

85
Q

Becker Muscular Dystrophy

Onset

A

late childhood or adolescence

86
Q

Becker Muscular Dystrophy

TOF. They have normal lifespan
compared with Duchene Muscular Dystrophy.

A

T

87
Q

Second leading cause of mental retardation
and is the primary cause of inherited mental
retardation

A

FRAGILE X SYNDROME

88
Q

FRAGILE X SYNDROME

TOF. 1:1550 for affected males and 1:8000 for affected females

A

T

89
Q

FRAGILE X SYNDROME

Incorrect:
A. trinucleotide repeat
(CCC) sequence
B. FMR-1gene
C. detectable at molecular level

A

A

90
Q

FRAGILE X SYNDROME

A pre-mutatation has how many repeats?

A

55-200

91
Q

A full mutatation has how many repeats?

A

200-4000 repeats

92
Q

FRAGILE X SYNDROME

Symptoms, except:
A. Long face with macrognathia
B. High arched palate
C. Micro-orchidism
D. Hyperextensible joints
E. NOTA

A

C (Macro - big balls)

+ MVP, everted ears and mentally retarded

93
Q

FRAGILE X SYNDROME

TOF. Carrier males are 20% cytologically and clinically NORMAL. They may transmit the disease to all his daughters and to affected grandchildren thus also known as “transmitting males.”

A

T

94
Q

FRAGILE X SYNDROME

TOF. 10% of carrier females are affected and are mentally retarded

A

F (50)

95
Q

FRAGILE X SYNDROME

TOF.

Brothers of transmitting males are at 40% risk of
having mental retardation

A

F (9% risk while grandsons of
transmitting males have 40% risk)

96
Q

Fragile X Syndrome

What do you call when the grandson of transmitting males have a high risk.

A

positional risk/Sherman paradox

97
Q

Fragile X Syndrome

TOF. Clinical features gets lessen with each generation

A

F

97
Q
A

Cytogenetics (18 decks)

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